On the one hand, I hate myself for starting a blog. "Blogging" seems like one of those self-centered hobbies taken up by entitled white kids, like brewing ones own beer or bikram yoga. On the other hand, the most useful information I've gathered about my medical maladies came from other patients. And since I keep being treated like a freak of nature by my doctors, I guess my problems are pretty rare. To my knowledge, I've only ever physically met one other person with Ehlers-Danlos Syndrome & POTS. I've never physically met another person with Chiari. I had never even heard of Central Sleep Apnea before I was informed that I have it. As for polyclonal hypergammaglobulinemia? Please. Even Google can't help me on that one. So I thought maybe blogging about all of my personal experiences with these conditions (and the neurological condition I suffer from that still doesn't have a name) might help me meet the few other people in the world that have ALL of my problems (I have to believe there are a couple of you out there that know exactly what I'm going through). If not, maybe my blog will at least help someone get through their own struggles a little easier.
To start, I'm 25. I have been diagnosed with Ehlers-Danlos Syndrome. My geneticist thinks I'm some sort of hybrid of Hypermobility Type & Classic Type. I am a 9/9 on the Beighton Scale. I have almost all of the systemic symptoms that are more commonly associated with Classic EDS, but I don't physically "look the part". She thinks the tests are too inaccurate and unreliable currently, so we haven't bothered testing for the specific defects. My mother won't bother seeing a doctor to be evaluated, even though she shares some of my joint problems, because she is an RN and for some reason the nurses I know don't go to the doctor. Anyway, she says there's no point since there's no cure or treatment and I suppose she's right. I also have dysautonomia, specifically Postural Orthostatic Tacchycardia Syndrome (POTS). When I'm upright (sitting or standing), my heart rate skyrockets. My blood pressure doesn't drop, but it stays consistently low. If I'm upright long enough, I get more severe symptoms similar to the warning signs patients with vasovagal syncope get when they're about to have a fainting episode. I shake, my knees start to give out, my vision gets hazy, in a few instances my hearing has gone out completely, and I am physically compelled to SIT SIT SIT ASAP before I collapse. So far, I haven't collapsed yet. Yay? I have Mitral Valve Prolapse (MVP), which is a given with dysautonomia according to my 100-year-old cardiologist. I get palpitations, chest pain, shortness of breath, and a weird-yet-awesomely-trippy humming in my heart. I also have Central Sleep Apnea (CSA). Some of you may be familiar with Obstructive Sleep Apnea, which involves an airway collapse or some other physical cause that interrupts breathing during sleep. My hubby has it, and he wears a super-sexy CPAP to bed every night. My form of sleep apnea is caused by my brain... essentially, it fails to send signals to my body to breathe during different phases of sleep. What causes this, you ask? It's a neurological problem, but in my case I believe it's caused by an undiagnosed Chiari 1 Malformation. Unfortunately, I have yet to find a neurologist that knows enough about EDS and Connective Tissue Disorders to know that I need an upright MRI to evaluate CM1. I keep looking for one, but I swear it's like trying to find a unicorn. I also have: polyclonal hypergammaglobulinemia (I have too much gamma globulin in my blood, nobody knows why as I am too young to have Multiple Myeloma); anemia due to chronic blood loss (I am a very impressive bleeder... rectal bleeds, nosebleeds, you name it); Vitamin D deficiency (so common it doesn't deserve bold lettering); Papilledema (my optic margins are virtually invisible); Degenerative Disc Disease (also common, though maybe not for 25 yr olds); Pseudotumor Cerebri; and Leukocytosis.
I've been evaluated by 21 specialists since 2008. Neurologists, Rheumatologists, ENTs, Ophthalmologists, Neuro-Ophthalmologists, etc. I guess I've given about 50 vials of blood in the past two years. I've had about ten MRIs total, a spinal tap, multiples scans of the arteries in my neck and brain, heart tests, calorics tests, tilt-tables, nerve-conduction studies... needless to say, I am practically a professional patient. I spend my weekends reading abstracts and differentials trying to find something the doctors have missed. If I had known my life was going to end up like this, I'd have went to medical school... except, you know, for the pesky POTS issue of not being able to be upright for more than a few minutes at a time :)
Anyway, here I am. More to come, including fun entries about what one does when the Mayo Clinic says they don't have the kind of doctors one needs, and the joy of disability lawyers!
